Canonical Allele Identifier: CA2424844805

Gene: RPGR

Linked Data

• dbSNP Id: rs2067181242

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38286558_38286560dup , CM000685.2:g.38286558_38286560dup	GRCh38
NC_000023.10:g.38145811_38145813dup , CM000685.1:g.38145811_38145813dup	GRCh37
NC_000023.9:g.38030755_38030757dup	NCBI36
NG_009553.1:g.45978_45980dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000494707.6:c.953+1307_953+1309dup
ENST00000642170.1:n.1826+4401_1826+4403dup
ENST00000642395.2:c.1905+536_1905+538dup	ENSP00000493468.2:n.1905+536_1905+538dup
ENST00000642739.1:c.1572+4401_1572+4403dup	ENSP00000493596.1:n.1572+4401_1572+4403du...
ENST00000644238.1:c.1386+4401_1386+4403dup	ENSP00000496728.1:n.1386+4401_1386+4403du...
ENST00000644337.1:c.1719+536_1719+538dup	ENSP00000494557.1:n.1719+536_1719+538dup
ENST00000645032.1:c.2441_2443dup MANE Select	ENSP00000495537.1:p.Val814_Glu815insVal
ENST00000645124.1:c.*101+536_*101+538dup	ENSP00000496446.1:n.*101+536_*101+538dup
ENST00000646020.1:c.*594+536_*594+538dup	ENSP00000494745.1:n.*594+536_*594+538dup
ENST00000318842.11:c.1905+536_1905+538dup	ENSP00000322219.6:n.1905+536_1905+538dup
ENST00000339363.7:c.2520+536_2520+538dup	ENSP00000343671.3:n.2520+536_2520+538dup
ENST00000378505.6:c.2441_2443dup	ENSP00000367766.2:p.Val814_Glu815insVal
ENST00000465127.1:c.172-379563_172-379561dup	ENSP00000417050.1:n.172-379563_172-379561...
ENST00000474584.5:c.*37+4401_*37+4403dup	ENSP00000418926.1:n.*37+4401_*37+4403dup
ENST00000482855.5:c.1905+536_1905+538dup	ENSP00000419276.1:n.1905+536_1905+538dup
ENST00000494707.5:c.139+4401_139+4403dup
NM_000328.2:c.1905+536_1905+538dup	NP_000319.1:n.1905+536_1905+538dup
NM_001034853.1:c.2441_2443dup	NP_001030025.1:p.Val814_Glu815insVal
XM_005272633.1:c.1572+4401_1572+4403dup	XP_005272690.1:n.1572+4401_1572+4403dup
XM_011543940.1:c.1902+536_1902+538dup	XP_011542242.1:n.1902+536_1902+538dup
XM_005272633.3:c.1572+4401_1572+4403dup	XP_005272690.1:n.1572+4401_1572+4403dup
XM_011543940.3:c.1902+536_1902+538dup	XP_011542242.1:n.1902+536_1902+538dup
XM_017029712.2:c.1569+4401_1569+4403dup	XP_016885201.1:n.1569+4401_1569+4403dup
NM_001367245.1:c.1902+536_1902+538dup	NP_001354174.1:n.1902+536_1902+538dup
NM_001367246.1:c.1719+536_1719+538dup	NP_001354175.1:n.1719+536_1719+538dup
NM_001367247.1:c.1572+4401_1572+4403dup	NP_001354176.1:n.1572+4401_1572+4403dup
NM_001367248.1:c.1602+4401_1602+4403dup	NP_001354177.1:n.1602+4401_1602+4403dup
NM_001367249.1:c.1569+4401_1569+4403dup	NP_001354178.1:n.1569+4401_1569+4403dup
NM_001367250.1:c.1569+4401_1569+4403dup	NP_001354179.1:n.1569+4401_1569+4403dup
NM_001367251.1:c.1386+4401_1386+4403dup	NP_001354180.1:n.1386+4401_1386+4403dup
NR_159803.1:n.2263+536_2263+538dup
NR_159804.1:n.1648+4401_1648+4403dup
NR_159805.1:n.1714+4401_1714+4403dup
NR_159806.1:n.1866+536_1866+538dup
NR_159807.1:n.1622+4401_1622+4403dup
NR_159808.1:n.1826+4401_1826+4403dup
NM_000328.3:c.1905+536_1905+538dup	NP_000319.1:n.1905+536_1905+538dup
NM_001034853.2:c.2441_2443dup MANE Select	NP_001030025.1:p.Val814_Glu815insVal